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SUDDEN INFANT DEATH SYNDROME(SIDS)

MedGen UID:
52548
Concept ID:
C0038644
Disease or Syndrome
Synonyms: CAV3-Related Sudden Infant Death Syndrome; SIDS; Sudden Infant Death
SNOMED CT: SIDS - Sudden infant death syndrome (51178009); Sudden infant death syndrome (51178009); Unexpected sudden death of infant (51178009); SIDS (51178009); Crib death (51178009); Cot death (51178009)
 
Gene (location): SCN5A (3p22.2)
OMIM®: 272120

Definition

Sudden infant death syndrome (SIDS) is a diagnosis of exclusion which should be made only after a thorough autopsy without identification of a specific cause of death (Mage and Donner, 2004). Weese-Mayer et al. (2007) provided a detailed review of genetic factors that have been implicated in SIDS. The authors concluded that SIDS represents more than 1 entity and has a heterogeneous etiology most likely involving several different genetically controlled metabolic pathways. [from OMIM]

Clinical features

Apneic episodes in infancy
MedGen UID:
814310
Concept ID:
C3807980
Finding
Recurrent episodes of apnea occurring during infancy.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSUDDEN INFANT DEATH SYNDROME

Professional guidelines

PubMed

Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R, Hershberger RE, Judge DP, Le Marec H, McKenna WJ, Schulze-Bahr E, Semsarian C, Towbin JA, Watkins H, Wilde A, Wolpert C, Zipes DP; Heart Rhythm Society (HRS).; European Heart Rhythm Association (EHRA).
Europace 2011 Aug;13(8):1077-109. doi: 10.1093/europace/eur245. PMID: 21810866

Recent clinical studies

Etiology

Schwender K, Holtkötter H, Johann KS, Glaub A, Schürenkamp M, Sibbing U, Banken S, Vennemann M; GeSID Study Group., Pfeiffer H, Vennemann M
Forensic Sci Med Pathol 2016 Dec;12(4):399-406. Epub 2016 Sep 27 doi: 10.1007/s12024-016-9812-y. PMID: 27677632
Hoppenbrouwers T
J Child Neurol 2015 Jun;30(7):904-11. Epub 2014 Oct 9 doi: 10.1177/0883073814549243. PMID: 25300988
Wood AM, Pasupathy D, Pell JP, Fleming M, Smith GC
BMJ 2012 Mar 16;344:e1552. PMID: 22427307Free PMC Article
Adams SM, Good MW, Defranco GM
Am Fam Physician 2009 May 15;79(10):870-4. PMID: 19496386
Vennemann MM, Bajanowski T, Brinkmann B, Jorch G, Sauerland C, Mitchell EA; GeSID Study Group.
Pediatrics 2009 Apr;123(4):1162-70. doi: 10.1542/peds.2008-0505. PMID: 19336376

Diagnosis

Sarquella-Brugada G, Campuzano O, Cesar S, Iglesias A, Fernandez A, Brugada J, Brugada R
Int J Legal Med 2016 Mar;130(2):415-20. Epub 2016 Feb 12 doi: 10.1007/s00414-016-1330-7. PMID: 26872470
Lonsdale D
Med Hypotheses 2015 Dec;85(6):922-6. Epub 2015 Sep 14 doi: 10.1016/j.mehy.2015.09.009. PMID: 26455416
Cerpa VJ, Aylwin Mde L, Beltrán-Castillo S, Bravo EU, Llona IR, Richerson GB, Eugenín JL
Am J Respir Cell Mol Biol 2015 Oct;53(4):489-99. doi: 10.1165/rcmb.2014-0329OC. PMID: 25695895Free PMC Article
Garcia AJ 3rd, Koschnitzky JE, Ramirez JM
Respir Physiol Neurobiol 2013 Nov 1;189(2):288-300. Epub 2013 Jun 2 doi: 10.1016/j.resp.2013.05.032. PMID: 23735486Free PMC Article
Adams SM, Good MW, Defranco GM
Am Fam Physician 2009 May 15;79(10):870-4. PMID: 19496386

Therapy

Schwender K, Holtkötter H, Johann KS, Glaub A, Schürenkamp M, Sibbing U, Banken S, Vennemann M; GeSID Study Group., Pfeiffer H, Vennemann M
Forensic Sci Med Pathol 2016 Dec;12(4):399-406. Epub 2016 Sep 27 doi: 10.1007/s12024-016-9812-y. PMID: 27677632
Cerpa VJ, Aylwin Mde L, Beltrán-Castillo S, Bravo EU, Llona IR, Richerson GB, Eugenín JL
Am J Respir Cell Mol Biol 2015 Oct;53(4):489-99. doi: 10.1165/rcmb.2014-0329OC. PMID: 25695895Free PMC Article
Horne RS, Hauck FR, Moon RY, L'hoir MP, Blair PS; Physiology and Epidemiology Working Groups of the International Society for the Study and Prevention of Perinatal and Infant Death.
J Paediatr Child Health 2014 Mar;50(3):170-4. doi: 10.1111/jpc.12402. PMID: 24674245
Franco E, Dias A, Teresa D, Hebert K
Ann Noninvasive Electrocardiol 2014 Mar;19(2):198-202. Epub 2013 Sep 9 doi: 10.1111/anec.12086. PMID: 24620847
Vennemann MM, Bajanowski T, Brinkmann B, Jorch G, Sauerland C, Mitchell EA; GeSID Study Group.
Pediatrics 2009 Apr;123(4):1162-70. doi: 10.1542/peds.2008-0505. PMID: 19336376

Prognosis

Rosenthal NA, Currier RJ, Baer RJ, Feuchtbaum L, Jelliffe-Pawlowski LL
Paediatr Perinat Epidemiol 2015 Mar;29(2):151-5. Epub 2015 Feb 16 doi: 10.1111/ppe.12175. PMID: 25689231
Schubert S, Haas C, Bartsch C, Mirshekarnejad M, Kohrs S, Roettinger I, Grosshennig A, Stuhrmann M, Scholz C, Schmidtke J
Mol Cell Probes 2015 Feb;29(1):31-4. Epub 2014 Nov 4 doi: 10.1016/j.mcp.2014.10.006. PMID: 25449952
Mage DT, Donner EM
Acta Paediatr 2014 Feb;103(2):188-93. Epub 2013 Dec 20 doi: 10.1111/apa.12482. PMID: 24164639
Evans A, Bagnall RD, Duflou J, Semsarian C
Hum Pathol 2013 Sep;44(9):1730-6. Epub 2013 Apr 25 doi: 10.1016/j.humpath.2013.01.024. PMID: 23623143
Wood AM, Pasupathy D, Pell JP, Fleming M, Smith GC
BMJ 2012 Mar 16;344:e1552. PMID: 22427307Free PMC Article

Clinical prediction guides

Schwender K, Holtkötter H, Johann KS, Glaub A, Schürenkamp M, Sibbing U, Banken S, Vennemann M; GeSID Study Group., Pfeiffer H, Vennemann M
Forensic Sci Med Pathol 2016 Dec;12(4):399-406. Epub 2016 Sep 27 doi: 10.1007/s12024-016-9812-y. PMID: 27677632
Rosenthal NA, Currier RJ, Baer RJ, Feuchtbaum L, Jelliffe-Pawlowski LL
Paediatr Perinat Epidemiol 2015 Mar;29(2):151-5. Epub 2015 Feb 16 doi: 10.1111/ppe.12175. PMID: 25689231
Alfelali M, Khandaker G
Paediatr Respir Rev 2014 Dec;15(4):307-11. Epub 2014 Sep 19 doi: 10.1016/j.prrv.2014.09.004. PMID: 25441371
Highet AR, Berry AM, Bettelheim KA, Goldwater PN
Int J Med Microbiol 2014 Jul;304(5-6):735-41. Epub 2014 May 29 doi: 10.1016/j.ijmm.2014.05.007. PMID: 24951305
Wood AM, Pasupathy D, Pell JP, Fleming M, Smith GC
BMJ 2012 Mar 16;344:e1552. PMID: 22427307Free PMC Article

Recent systematic reviews

Gelfer P, Tatum M
J Pediatr Health Care 2014 Sep-Oct;28(5):470-4. Epub 2014 Jun 16 doi: 10.1016/j.pedhc.2014.04.007. PMID: 24944089
Zhang K, Wang X
Leg Med (Tokyo) 2013 May;15(3):115-21. Epub 2012 Dec 6 doi: 10.1016/j.legalmed.2012.10.007. PMID: 23219585
Strehle EM, Gray WK, Gopisetti S, Richardson J, McGuire J, Malone S
Acta Paediatr 2012 Jan;101(1):8-13. Epub 2011 Oct 10 doi: 10.1111/j.1651-2227.2011.02464.x. PMID: 21910748
Vennemann MM, Hense HW, Bajanowski T, Blair PS, Complojer C, Moon RY, Kiechl-Kohlendorfer U
J Pediatr 2012 Jan;160(1):44-8.e2. Epub 2011 Aug 24 doi: 10.1016/j.jpeds.2011.06.052. PMID: 21868032
Hauck FR, Thompson JM, Tanabe KO, Moon RY, Vennemann MM
Pediatrics 2011 Jul;128(1):103-10. Epub 2011 Jun 13 doi: 10.1542/peds.2010-3000. PMID: 21669892

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